{
  "id": 12885,
  "label": "hereditary spastic paraplegia 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011803",
  "properties": {
    "xrefs": [
      "DOID:0110816",
      "GARD:0004927",
      "MEDGEN:339552",
      "MESH:C564599",
      "OMIM:607259",
      "Orphanet:99013",
      "SCTID:715776003",
      "UMLS:C1846564"
    ],
    "synonyms": [
      "SPG7",
      "SPG7 hereditary spastic paraplegia",
      "hereditary spastic paraplegia 7",
      "hereditary spastic paraplegia caused by mutation in SPG7",
      "hereditary spastic paraplegia type 7",
      "spastic paraplegia type 7",
      "hereditary spastic paraplegia paraplegin type",
      "spastic paraplegia 7",
      "spastic paraplegia 7, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020546",
          "MEDGEN:1825947",
          "Orphanet:223713",
          "UMLS:C5679825",
          "icd11.foundation:1204111545"
        ],
        "synonyms": [
          "OXPHOS disease",
          "OXPHOS system deficiency"
        ],
        "definition": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0016387"
    },
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5637,
        21292,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2476",
          "GARD:0006637",
          "ICD10CM:G11.4",
          "ICD9:334.1",
          "MEDGEN:20844",
          "MESH:D015419",
          "MedDRA:10019903",
          "NANDO:1200052",
          "NCIT:C140267",
          "NORD:1238",
          "OMIMPS:303350",
          "Orphanet:685",
          "SCTID:39912006",
          "UMLS:C0037773",
          "icd11.foundation:810807375"
        ],
        "synonyms": [
          "spastic paraplegia",
          "HSP",
          "SPG",
          "Strümpell-Lorrain disease",
          "familial spastic paraplegia",
          "hereditary spastic paraparesis",
          "FSP",
          "familial spastic paraparesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs."
      },
      "child_count": 135,
      "reference_id": "MONDO:0019064"
    },
    {
      "id": 24045,
      "label": "hereditary ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24044,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050951",
          "EFO:0009671",
          "GARD:0020286",
          "ICD10CM:G11",
          "ICD10WHO:G11",
          "MEDGEN:2478",
          "MESH:C531684",
          "Orphanet:183518",
          "SCTID:763597000",
          "UMLS:C0004138",
          "icd11.foundation:442347652"
        ],
        "synonyms": [
          "rare hereditary ataxia",
          "SCA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 40,
      "reference_id": "MONDO:0100309"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia"
    },
    {
      "id": 24045,
      "label": "hereditary ataxia"
    }
  ]
}